Characteristics of Adult Patients
Dravet syndrome is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent and/or prolonged seizures. Previously known as Severe Myoclonic Epilepsy of Infancy (SMEI), it affects 1:15,700 individuals, over 80% of whom have a mutation in their SCN1A gene. Dravet syndrome is a Developmental and Epileptic Encephalopathy, or DEE, which means in addition to difficult to treat seizures, patients also have varying degrees of impact on development, including delays, regression, or loss of skills. Adult patients with Dravet syndrome suffer multiple comordities in addition to persistent seizures, including but not limited to cognitive disabilities, behavioral challenges, decreased mobility, sleep issues, and gastrointestinal issues.
Characteristics of Dravet syndrome often change in adulthood. A different therapeutic approach may be needed as the patient ages and new or increased care may be required. Seizure types often change and prolonged seizure events may decrease in frequency; however the majority of adult patients still experience regular seizures. Studies on behavior problems are lacking for this population, but anecdotal reports from caregivers tell us that older patients may experience irritability, aggressiveness, compulsiveness, and other behavioral problems that need to be addressed to keep the patient and caregiver safe. Current treatment options are limited and the constant care required for someone suffering from Dravet syndrome can severely impact the patient’s and the caregiver’s quality of life. Patients with Dravet syndrome face a 15-20% mortality rate due to SUDEP (Sudden Unexpected Death in Epilepsy), prolonged seizures, seizure-related accidents such as drowning, and infections. SUDEP remains a risk in adulthood.
Adults living with Dravet syndrome (DS) have complex medical needs and require comprehensive care and community support. Top community needs include:
- A correct diagnosis, at any age
- Knowledgeable adult neurologists who understand the complexities of care for older patients
- Pediatric-to-Adult Transition Clinics
- Comprehensive care for co-morbidities
DSF offers resources and information for families and healthcare professionals and seeks to better define and understand the adult patient experience and needs.
“Dravet syndrome is a disease that dramatically and permanently impacts patients, and their families, at every stage of life. As patients age, there is an even greater need for medical and community supports and resources to ensure a safe and meaningful quality of life for patients and those who care for them.”
Mother to Jake, age 23 with DS
Resources for Caregivers of Adults
Adult Dravet Patient Community FAQs
Answers to top questions in the adult patient community answered by Dravet specialists and parents from the Dravet community.
You have come to the right place. The Dravet Syndrome Foundation (DSF) website has information about the diagnosis, expert consensus on treatment options, current research opportunities, and family resources. Our online support group of over 2500 parents and caregivers is a wealth of information, and our DSF Family Network can connect you with families near you.
Yes. For most patients, seizures remain frequent and uncontrolled through adulthood. While studies consistently show severity and frequency may decrease compared to childhood, Dravet syndrome is a lifelong disorder that is not outgrown, and our community of caregivers of adult patients notes that a small decrease in seizure frequency should not be misinterpreted as seizure control (Genton, 2011; Chiron, 2018).
While the adults described in the current literature are severely affected, it should be noted the diagnosis is relatively new. Correlation between this type of epilepsy and SCN1A mutations was only discovered in 2001-2002. It is everyone’s hope that earlier diagnosis, early initiation of suitable medications, and improved treatments will lead to better outcomes in adult patients.
Many of the pediatric epileptologists who specialize in Dravet syndrome will follow their patients into early adulthood. However, there are few adult neurologists in the U.S. who have experience treating patients with Dravet syndrome. DSF has been working with their Medical Advisory Board to raise awareness of the need for knowledgeable adult neurologists who understand the complexities of care for older patients with Dravet syndrome.
There is no reliable estimation of life expectancy in Dravet syndrome. When the syndrome was first described in 1978, the focus was on children. However, as neurologists around the world have begun to recognize the characteristic clinical history of their patients with Dravet syndrome, more adults have been diagnosed. In 1992, studies followed patients as old as 27. By 2010, literature reported patients aged 42, and in 2018 literature on adults significantly older than 40 years has emerged (Genton, 2011; Chiron, 2018; Lagae, 2017). Meanwhile, children with Dravet syndrome have grown into adulthood, creating a richer landscape of adult patients than ever before.
Connecting with other families who have traveled this road is essential to understanding Dravet syndrome, coping with the challenges it brings, and being aware of out-of-the-box treatments or strategies. We encourage you to join our private online Caregiver Support Group, as well as our DSF Family Network. The online support group can help you with immediate questions, while the DSF Family Network can help you connect with families local to you. There may be adults nearby that you may not otherwise know!
Transition of care from a pediatric neurologist to an adult neurologist can be difficult and uncomfortable for the patient and caregiver.
One of the key challenges reported by caregivers of adults with Dravet syndrome is finding adult providers with knowledge of the management and treatment of Dravet syndrome. The DSF Medical Advisory Board came together to form a Dravet Syndrome Transition Guide. This guide is essentially a quick fact sheet to bring an adult neurologist up-to-speed on the general presentation of Dravet syndrome and issues specific to the treatment and care for adults with Dravet syndrome.
Some other organizations, such as the Child Neurology Foundation, have also begun to tackle this issue and provide helpful tips, which can be found at this link.
DSF continues to work on developing resources to aid in the transition from pediatric to adult care.
Most adults with Dravet syndrome in the United States are considered disabled and qualify for Medicaid, a federal system of insurance for low-income or disabled adults that is administered differently in each state. Medicaid provides medically required care, though the definition of “required” is slightly less broad for adults than for children on Medicaid.
While parents are considered legal guardians of their minor children and are allowed to make legal and medical decisions for the minors, parents do not automatically have authority over medical decisions for their adult developmentally disabled children. Parents should obtain legal guardianship of their child before or just after the patient turns 18 to ensure they are included in the medical care of the patient. Some parents have found it helpful to have this paperwork with them during hospitalizations to avoid confusion and delay, and emergency care teams may appreciate knowing they are legally allowed to speak with the parents. With proof of legal guardianship, the parents can then advocate for their adult patient and remain part of the health care conversation.
Frequency of genetic testing should not be related to the patient’s age, since their genetic makeup does not change as they grow older. Instead, the frequency should be related to advances in genetic testing techniques and the patient’s most recent test compared to the quality of testing available. That is: Patients whose most recent genetic tests were performed 10+ years ago and were either inconclusive or of unknown significance may benefit from new testing due to advances in the accuracy, scope, and interpretability of testing in the past decade. This question is best discussed with your neurologist or geneticist due to the patient-specific factors, however it is generally the case that once a causative gene mutation is found, additional testing in usually unnecessary.
Because seizures can be so difficult to control in Dravet syndrome, many patients have tried all of the available medications within the first decade of life. These patients may re-try medications that were stopped at a younger age for a variety of reasons, and sometimes find they work differently at later stages of life. Perhaps because of the different stages of brain maturation, some medications that caused significant behavioral side effect or that did not control seizures may have better results when given again to the same patient at an older age (Nabbout et al., 2017). There is very little research or data on the efficacy of medications when prescribed at different ages, but given the changing nature of the body, hormones, seizures, and Dravet syndrome itself, it is not unreasonable to re-try medications that were somewhat effective in younger years.
While it is relatively easy and socially acceptable to administer rectal emergency medications such as diazepam to infants, this may not be the case for adolescents and adults. Physically lowering an adult patient from a wheelchair, chair, or car, removing clothing, and administering rectal diazepam, all while the patient is seizing, is quite difficult. Other rescue medications with easier routes of administration include intranasal midazolam and buccal (or “by mouth”) midazolam, which are currently used by patients off-label (without FDA approval for this use).
There are three recently approved FDA resuce medications that may be useful for patients with Dravet syndrome: Nayzilam, a nasal midazolam spray manufactured by UCB Pharmaceuticals; Seizalam, an intramuscular injection of midazolam manufactured by Meridian Medical Technologies; and Valtoco, a nasal diazepam spray manufactured by Neurelis.
A frustration among many parents of adults with Dravet syndrome is that most clinical trials for new treatments are limited to children ages 2-18. This leaves the adult population waiting several years for FDA approval for access to these potentially life changing medications. Some companies sponsoring the clinical trials may have “compassionate use” or “expanded access” programs, where adult patients can enroll in a very small study of the drug without the same requirements as the pediatric patients in the large clinical trials. These programs vary by drug and sponsor, and you should contact your neurologist and the trial sponsor to determine if this might be an appropriate route of access for your patient.
Many of the clinical trials for Dravet syndrome focus on the pediatric population simply because it is the most well-characterized, populous age group. However, some clinical trials focus specifically on adult patients, and some adult expanded access or compassionate use programs supplement concurrent pediatric studies. You can find more information about current clinical trials on the DSF Clinical Research and Pipeline page.
Beginning the anti seizure medication stiripentol in adult patients may have an increased risk of hyperammonemia, particularly for patients also taking valproate and clobazam. Ammonia levels should be closely monitored and can be managed by treatment with carnitine. Adults may need to be on a lower-than-typical max dose (Zulfiqar Ali et al 2020).
Associated Health Issues
In a DSF-administered online survey of 92 caregivers of adult patients in 2018, cognition, SUDEP, sleep disturbance, seizures, and behavior were the most commonly reported concerns of the caregivers. Other co-morbidities include declining mobility, gastrointestinal GI issues, and dysautonomia (inability to regulate autonomic functions such as temperature, heart rate, digestion, urination and respiration.)
Dysautonomia is a term used to describe improper function of the autonomic nervous system. This system controls “automatic” body processes such as heart rate, blood pressure, breathing, digestion, and response to the external environment (such as sweating). When the system is not functioning properly, symptoms can include an inability to regulate temperature, heart rate, blood pressure, respiration, sweating, and others. In younger patients patients with Dravet syndrome, inability to regulate temperature is well recognized and understood to be a seizure trigger. As patients age, other symptoms of dysautonomia may be equally prominent. Some caregivers report blood pooling in the legs, swelling of the limbs, and circulation abnormalities including discoloration of hands or feet. Others report constipation and urine retention. One study found patients with Dravet syndrome were nearly 3 times more likely to report dysautonomic episodes at a frequency of at least 1/week compared to healthy individuals (Skluzacek, et al. 2011).
Behavioral issues are common in both children and adults with Dravet syndrome and their severity can present as a spectrum. Frequent issues in children include inattention, perseveration, impulse control, and ADD/ADHD symptoms as well as agitation and difficulty with transitions (Knupp, 2017). In adults, these issues may persist or may become more aligned with Autism Spectrum characteristics (Berkvens, 2015). Different techniques for managing these behaviors may be necessary as patients grow in size.
Kyphosis (curved back), kyphoscoliosis (curved back in combination with scoliosis, an “S” shape of the spine), claw foot (a characteristic bending of the toe joints), and flat feet are the most common orthopedic issues in adult patients with Dravet syndrome (Genton, 2011). These orthopedic issues may present with a “crouch gait” or altered movement when walking that is not caused by long-term anti-seizure medication use (Aljaafari, 2017).
Puberty in boys with Dravet syndrome is very similar to puberty in typically developing boys, though their understanding of and ability to communicate these changes may be significantly impaired. Signs of puberty include enlargement of the testicles and scrotum (at an average age of 11, but anytime between age 9 and 14), pubic hair, growth spurt (peaking approximately 2 years after puberty onset), increased muscle mass, voice change, male pattern hair loss, and other symptoms (American Academy of Pediatrics – Male). There are several case reports of early and precocious puberty in epilepsy and in Dravet syndrome, but further study is needed in this area (Winter, 2019). The hormonal changes associated with puberty may affect epilepsy, and patients with Dravet syndrome sometimes report an increase in seizures during puberty.
Sexuality is a normal development in humans, and those with developmental disabilities such as Dravet syndrome are no different from their peers in this respect. However, special attention may be required to help patients understand and deal with these developments in a socially appropriate matter. The American Academy of Pediatrics has an excellent guide for navigating these changes in conjunction with the patient’s primary care doctor.
Puberty in girls with Dravet syndrome is very similar to puberty in typically developing girls, though their understanding of and ability to communicate these changes may be significantly impaired. Signs of puberty include breast development (with breast buds appearing between age 8-13), pubic hair, changing body shape, growth spurt (peaking approximately 1 year after puberty onset), menstruation (typically 18-24 months after puberty onset, with an average appearance just before age 13), and other symptoms. (American Academy of Pediatrics – Female). There are several case reports of early and precocious puberty in epilepsy and in Dravet syndrome, but further study is needed in this area (Winter, 2019). Many caregivers report increased seizures with puberty in Dravet syndrome. During puberty, a female’s body produces varying levels of estrogen and progesterone. Progesterone is typically anti-convulsant, while estrogen is typically pro-convulsant (Taugoll, 2015). Some patients have experienced decreased seizures in response to progesterone contraceptive treatment, while others have not (Lotte, 2018).
Sexuality is a normal development in humans, and those with developmental disabilities such as Dravet syndrome are no different from their peers in this respect. However, special attention may be required to help patients understand and deal with these developments in a socially appropriate matter. Women with Dravet syndrome may be sexually active and can become pregnant, so conversations regarding birth control, pregnancy, and sexually transmitted diseases are appropriate depending on their level of cognitive impairment. At any level of impairment, they may be victims of sexual abuse and unable to advocate for themselves, so caregivers should watch closely for any signs of STDs, pregnancy, or sexual abuse. The American Academy of Pediatrics has an excellent guide for navigating the changes associated with puberty in conjunction with the patient’s primary care doctor.
Parent to Parent Advice
Most insurance companies, either primary or secondary (Medicaid), will cover incontinence supplies. It is best to call around to check multiple durable medical equipment providers, including local pharmacies. A written prescription and letter of medical necessity will most often be required.
Suggestions from other caregivers:
- Shutterfly books with favorite photos
- Custom CD with favorite songs
- Cause and effect toys (sometimes used with a adaptive switch that makes it easier to use)
- Art supplies
- Craft kits
- Laminated photos that can be used as flash cards
- Birdfeeder near where the child can see it.
- Musical instruments
- An outing based on their interests – i.e., bowling party, amusement park, zoo, beach, etc.
- Adding either a permanent or portable ramp to the home for easy stroller/wheelchair/walking access
- Roll in shower with a rolling commode shower chair, used for both showers and safe toileting
- Multiple handheld shower heads with extra long hoses – one for warmth of flowing water if temperature is an issue, and one for washing. Consider a shower head with a pause button.
- Electric/adjustable massage table in a bathroom to be used as a changing table as well as for massage or physical therapy
- A bariatric-sized bed so there is more room for seizures without hitting the rails, more space to administer rescue meds (such as Diastat), and also so there is more room for the child to seize while remaining safe from falling out
- First floor bedroom
- Stair chair, noting that they can be costly if your stairs are not straight. They also require the passenger to ride independently.
- Bracing built into walls in case a lift is needed (if you are adding an addition)
- Extra wide doorways to accommodate strollers, portable lifts, or any type of rolling chair
Caregivers reported using a video monitor such as the SAMi Sleep Activity Monitor. Another suggestion is obtaining a bariatric fully electric hospital bed (extra heavy-duty and extra wide), with padded rails on all four sides with full length rails and no gap in the middle to prevent the patient from falling out during a seizure.
- Convaid Cruiser adaptive stroller
- Aquatec VIP Ocean Shower Commode Chair
- Electric massage table that can be lowered up and down
- Cooling vest
- Rifton Activity chair
- Bariatric width hospital bed with wipeable mattress and full rails and pads on all four sides
- Stander to maintain weight bearing and to help with posture
- A generator – you may be able to get funding or donations to help cover the cost. It assures that in an emergency, you will be able to charge pumps, microwave keto food, keep keto food refrigerated, and have heat and AC, etc.
See if there is a PCA or home care nurse program that you qualify for. If you get turned down, appeal to different agencies. Start planning for adult life several years before the child turns 22 (or whatever age they age out of school). If there is a waiting list for Section 8 housing assistance, get on that list several years before you anticipate needing it if you are interested in residential options.
Consider what type of car you drive. You may have to switch to a different type of vehicle that is easier for an adult size passenger to get into and out of with full or partial assistance. Important considerations include seat height and adjustability, width of door opening, and even where driver controls are placed if an adult passenger rides in the front and is likely to reach for them. Make sure seatbelts are always secured and consider using safety locks as needed.
For public and school transport, it is important to consider the safety of an adult passenger in any vehicle in the event of a seizure or should they attempt to elope. Ideally, a 1:1 aide should accompany them to school or a day program. If that is not possible, at the very least the transport driver should be trained and have a care plan in place to deal with any such incident.
Goals will vary based on development age. Shared goals from caregivers included:
- John will participate in range of motion exercises once per day, five times per week, to maintain his current mobility as it relates to his function. Other therapeutic activities incorporated into daily programming to include: walking, sitting, standing, transfers, and reaching as appropriate and as John is able.
- Mary will follow up to five one-step directions with minimal verbal prompts in four out six sessions per week.
- John will interact with toys, instruments or activities as they are introduced, including adapted and technology-based materials with minimal verbal prompts and physical gestures in four out of six sessions per week.
- Mary will maintain her current functional life skills and add one additional skill per quarter by participating physically, cognitively, socially, and recreationally in a daily program with minimal verbal and physical prompts six days per week for three hours per day.
- John will increase his functional communication by using verbal language, physical gestures or his communication device with limited verbal prompts one time each session five times per week.
- Mary will make choices of preferred items and activities, using eye gaze or direct touch independently in four out of six sessions per week.
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10. American Academy of Pediatrics – Male https://www.healthychildren.org/English/ages-stages/gradeschool/puberty/Pages/Concerns-Boys-Have-About-Puberty.aspx
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12. American Academy of Pediatrics – Female https://www.healthychildren.org/English/ages-stages/gradeschool/puberty/Pages/Physical-Development-Girls-What-to-Expect.aspx)
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